DiGeorge syndrome
MONDO:0008564A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.
Also known as: 22q deletion syndrome(s), 22q11.2 deletion syndrome, DGS, DGS1, Di-George syndrome, DiGeorge anomaly, DiGeorge syndrome, DiGeorge syndrome type 1
11 clinical trials for this condition and its sub-types, 11 tagged with DiGeorge syndrome itself.
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Stem cell transplant offers new hope for rare immune diseases
Disease control Recruiting nowThis study tests a stem cell transplant for people with common variable immunodeficiency (CVID) and other immune disorders. The goal is to replace the faulty immune system with a healthy donor's stem cells. Participants are aged 5 to 40 and will receive a reduced-intensity transp…
Phase 2 • Sponsor: Paul Szabolcs • Aim: Disease control
Last updated Jun 27, 2026 12:33 UTC
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New study tests medications for brain symptoms in three genetic disorders
Disease control Recruiting nowThis study looks at thinking and mental health issues in people with Velocardiofacial, Williams, and Fragile X syndromes. Researchers will test how well medications like methylphenidate, fluoxetine, and risperidone improve these symptoms. The goal is to better understand and trea…
Phase 4 • Sponsor: The Chaim Sheba Medical Center • Aim: Disease control
Last updated Jun 27, 2026 11:03 UTC
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New prenatal blood test aims to detect genetic disorders without invasive procedures
Diagnosis Recruiting nowThis study is testing a new blood test that looks for fetal cells in the mother's blood to detect genetic conditions like Down syndrome. The test will be compared to standard diagnostic methods such as amniocentesis or newborn testing. The study involves 1,000 pregnant individual…
Sponsor: BillionToOne Inc. • Aim: Diagnosis
Last updated Jun 27, 2026 13:06 UTC
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A common antidepressant may tame anxiety in kids with autism and ADHD — a trial puts it to the test
Symptom relief Recruiting nowThis trial tests whether sertraline, a widely used antidepressant, can reduce anxiety in children and teens aged 8 to 17 with neurodevelopmental disorders such as autism, ADHD, Fragile X syndrome, and Tourette syndrome. Participants receive either sertraline or a placebo for seve…
Phase 2 • Sponsor: Holland Bloorview Kids Rehabilitation Hospital • Aim: Symptom relief
Last updated Jul 29, 2026 00:00 UTC
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Hunting for hidden genes that shape a genetic Disorder's severity
Knowledge-focused Recruiting now22q11.2 deletion syndrome can cause heart defects, facial differences, and learning challenges, but its severity differs widely from person to person. This study analyzes DNA from 1,000 people with the deletion to identify genetic variations that might influence how the disorder …
Sponsor: Albert Einstein College of Medicine • Aim: Knowledge-focused
Last updated Jul 31, 2026 00:00 UTC
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Intensive brain training shows promise for kids with developmental delays
Knowledge-focused Recruiting nowThis study looks at how a 2-week, personalized therapy program helps children aged 4-12 with conditions like cerebral palsy, autism, or genetic disorders. Kids get about 2.5 hours of tailored therapy each day, focusing on skills like movement, attention, and communication. The go…
Sponsor: Healing Hope International • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC